Archives for March, 2009

I doubt anyone’s noticed, but I recently rearranged my “Blogs I Read” menu to give appropriate prominence to three fellow genomics bloggers: Anthony Fejes, Dan Koboldt and David Dooling. If you’re interested in the cutting edge of modern genomics you should definitely be reading these guys; all three are researchers working on hard problems in…

Over at Opposing Views, bioethicist Jacob Appel argues that pre-implantation genetic screening for severe disease mutations should be compulsory for parents undergoing IVF. Appell dodges one obvious criticism of this suggestion – that it unacceptably limits parental autonomy – by pointing out that “Western societies have long acknowledged that parental authority cannot undermine the medical…

John Halamka reports that Google Health has quietly launched an application for secure sharing of your online medical records: The Google solution, introduced without fanfare, solves many confidentiality issues by putting the patient in control of medical record sharing. Call it “Facebook for Healthcare”. You invite those who you believe should see your medical information…

Nejentsev et al. (2009). Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes. Science DOI: 10.1126/science.1167728 The first item on my long list of predictions for 2009 was that this will be the year of rare variants for common disease – the year that we really start tracking down…

Jones et al. (2009). Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene. Science DOI: 10.1126/science.1171202 A paper published online today in Science illustrates both the potential and the challenges of using large-scale DNA sequencing to identify rare genetic variants underlying disease risk. Traditionally, geneticists have pinned down such variants using large family studies.…

Last month I mentioned a US fertility clinic that was offering couples undergoing IVF the opportunity to screen their embryos for sex, and for genes associated with “cosmetic” traits such as eye and hair colour. I used this as an opportunity to note that the genetic complexity of many traits (e.g. height, also discussed yesterday)…

I received an email a while back from a reader wondering why his friend has had to submit multiple saliva samples to personal genomics company 23andMe without getting a result back. Customers in a similar position may be reassured by a lengthy explanation posted yesterday on 23andMe’s blog about their sample processing protocol, penned by…

I discussed the second-generation sequencing company Complete Genomics a couple of weeks ago (see here and here). These guys are unique in that they offer their technology only as a service, rather than the usual business model of selling platforms to genomics facilities, and a highly restricted service at that: Complete has stated fairly categorically…